Abstract
The genetic basis of many cardiovascular diseases is increasingly understood. They often affect adolescents and young adults, have autosomal dominant inheritance, marked variability in clinical presentation and the most tragic outcomes of heart failure and sudden cardiac death. Hypertrophic cardiomyopathy (HCM) is the most prevalent, affecting up to 1 in 200 of the general population. Research efforts over the last two decades have focused on identifying predictors of poor outcomes, but have been complicated by the vast clinical heterogeneity characteristic of these diseases. In our experience, 25% of HCM patients with sudden death events had no traditional risk factors. More generally we have shown that amongst all young people (<35 years) who die suddenly, in 40% no cause of death is identified at postmortem (Bagnall et al. NEJM, 2016). Sudden death is devastating for the family; they must deal with grief and shock, but also the genetic risk to surviving relatives. There is a high risk of posttraumatic stress and prolonged grief, highlighting the need to integrate clinical psychological support in the specialised multidisciplinary clinic (Ingles et al. JAMA Int Med. 2016). Dr Ingles’s work focuses on not only better understanding the clinical, genetic and psychosocial aspects of genetic heart disease, but showing how these findings can be translated into improved patient care.
Bio
Dr Jodie Ingles is Head of the Clinical Cardiac Genetics Group, Molecular Cardiology Program, Centenary Institute and a cardiac genetic counsellor with 15 years experience working with families with genetic heart diseases. At 6 years post PhD, she is a Heart Foundation Future Leader Fellow and has over 90 publications in the area. She co-established and coordinates the Australian Genetic Heart Disease Registry, and is involved in initiatives such as ClinGen and Australian Genomics. Her work focuses on the clinical, genetic and psychosocial aspects of genetic heart diseases, and finding the best ways to manage our families.